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Allele : Faah<tm1.1Flee> fatty acid amide hydrolase; targeted mutation 1.1, Francis S Lee

Primary Identifier  MGI:5644434 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Faah
Transmission  Germline Strain of Origin  (C57BL/6NTac x 129S6/SvEvTac)F1
Is Recombinase  false Is Wild Type  false
molecularNote  A C to A transversion was introduced at coding nucleotide 385 (c.385C>A) in exon 3. The FRT site flanked neomycin resistance gene cassette that was inserted was subsequently removed through flp-mediated recombination. The mutation results in the substitution of a conserved proline at amino acid position 129 with a threonine residue (p.P129T). This mimics a polymorphism found in humans where it renders the enzyme susceptible to increased proteolytic degradation. Western blot analysis revealed an allele dose-dependent decrease in protein expression levels in forebrain homogenates from heterozygous and homozygous mutant mice relative to wild-type controls. Hydrolytic activity was reduced while anandamide (AEA) levels were increased in mutant brain homogenates relative to wild-type controls.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • FAAH C385A,
  • FAAH C385A
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele